ClinVar

NM_001367977.2(SCUBE2):c.1688G>A (p.Cys563Tyr)

Genes:

NRIP3-DT:NRIP3 divergent transcript [Gene - HGNC]
SCUBE2:signal peptide, CUB domain and EGF like domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 9048050 (on Assembly GRCh38)
• Chr11: 9069597 (on Assembly GRCh37)

Preferred name:

NM_001367977.2(SCUBE2):c.1688G>A (p.Cys563Tyr)

HGVS:

• NC_000011.10:g.9048050C>T
• NM_001170690.3:c.1331-488G>A
• NM_001330199.3:c.1601G>A
• NM_001367977.2:c.1688G>AMANE SELECT
• NM_020974.4:c.1688G>A
• NP_001317128.1:p.Cys534Tyr
• NP_001354906.1:p.Cys563Tyr
• NP_066025.2:p.Cys563Tyr
• NC_000011.9:g.9069597C>T
• NM_020974.2:c.1688G>A

This HGVS expression did not pass validation

Protein change:

C534Y

Molecular consequence:

• NM_001170690.3:c.1331-488G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330199.3:c.1601G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367977.2:c.1688G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020974.4:c.1688G>A - missense variant - [Sequence Ontology: SO:0001583]